ClinVar Miner

List of variants studied for Brain small vessel disease 1 with or without ocular anomalies by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.4250-2A>C rs2139146303
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661

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